Surgical treatment and somatostatin experience in growth hormone-secreting pituitary macroadenoma due to novel AIP mutation
Journal of Pediatric Endocrinology and Metabolism, cilt.38, sa.10, ss.1103-1110, 2025 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 38 Sayı: 10
- Basım Tarihi: 2025
- Doi Numarası: 10.1515/jpem-2025-0148
- Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
- Sayfa Sayıları: ss.1103-1110
- Anahtar Kelimeler: gigantism, acromegaly, somatotropinoma, AIP mutation, somatostatin analogs
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Objectives: Somatotropinomas are extremely rare in children and frequently associated with genetic causes. Among pituitary gigantism, approximately 30 % are attributed to the aryl hydrocarbon receptor-interacting protein (AIP) gene mutations, whereas other genetic causes are less common. These mutations cause more aggressive tumors that are challenging to control with a single intervention and often exhibit resistance to somatostatin analogs (SSAs). Our aim is to present a pediatric patient with a somatotropinoma due to a novel AIP variant who responded positively to SSA therapy following a single surgical intervention. Case presentation: A 15-year and 8-month-old male patient presented with complaints of excessive height and enlargement of the hands and feet over the past 2 years. Laboratory investigations revealed a random growth hormone level of 50 μg/L (normal range [NR]: 0.077–10.8) and insulin-like growth factor-1(IGF-1) level of 1,107 ng/mL (age-adjusted NR: 224–978/>+2 standardised deviation scores). Magnetic resonance imaging demonstrated a pituitary macroadenoma extending into the suprasellar region. A craniotomy was performed, and the majority of the tumor was resected. Due to the presence of residual tumor, SSA therapy (octreotide-LAR) was initiated. After 1 year of follow-up, IGF-1 levels returned to the normal range, and tumor growth was controlled. Genetic analysis identified a heterozygous frameshift novel variant (c.25delC, p.(Arg9Glyfs*9)) in the AIP gene. Conclusions: Although AIP mutation-positive cases are typically resistant to SSAs, our patient carrying a novel AIP variant demonstrated a favorable response to SSA treatment.